Canonical Allele Identifier: CA645509401

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 438527
• ClinVar RCV Id: RCV000505476
• dbSNP Id: rs1556206335
• MyVariant Identifiers: chrX:g.22266059_22266072del (hg19) ; chrX:g.22247942_22247955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247942_22247955del , CM000685.2:g.22247942_22247955del	GRCh38
NC_000023.10:g.22266059_22266072del , CM000685.1:g.22266059_22266072del	GRCh37
NC_000023.9:g.22175980_22175993del	NCBI36
NG_007563.2:g.220139_220152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*177_*190del (PHEX)	ENSP00000508059.1:n.*177_*190del
ENST00000683289.1:c.624+20331_624+20344del (PHEX)	ENSP00000508195.1:n.624+20331_624+20344del
ENST00000683917.1:n.1023_1036del (PHEX)
ENST00000684356.1:c.793_*2del (PHEX)	ENSP00000507619.1:n.[c.793_*2del;Arg265GlyfsTer?]
ENST00000684745.1:n.1913_1926del (PHEX)
ENST00000379374.5:c.2239_*2del (PHEX) MANE Select	ENSP00000368682.4:n.[c.2239_*2del;Arg747GlyfsTer?]
ENST00000379374.4:c.2239_*2del (PHEX)	ENSP00000368682.4:n.[c.2239_*2del;Arg747GlyfsTer?]
NM_000444.5:c.2239_*2del (PHEX)	NP_000435.3:n.[c.2239_*2del;Arg747GlyfsTer?]
NM_001282754.1:c.*74_*87del (PHEX)	NP_001269683.1:n.*74_*87del
XM_011545533.1:c.1483_*2del (PHEX)	XP_011543835.1:n.[c.1483_*2del;Arg495GlyfsTer?]
XM_011545534.1:c.1483_*2del (PHEX)	XP_011543836.1:n.[c.1483_*2del;Arg495GlyfsTer?]
XM_011545536.1:c.1132_*2del (PHEX)	XP_011543838.1:n.[c.1132_*2del;Arg378GlyfsTer?]
XR_950533.1:n.140+5984_140+5997del
XR_950534.1:n.127+5984_127+5997del
NR_073010.2:n.850+5984_850+5997del (PTCHD1-AS)
XM_011545536.2:c.1132_*2del (PHEX)	XP_011543838.1:n.[c.1132_*2del;Arg378GlyfsTer?]
XM_017029579.1:c.1483_*2del (PHEX)	XP_016885068.1:n.[c.1483_*2del;Arg495GlyfsTer?]
XM_024452390.1:c.1948_*2del (PHEX)	XP_024308158.1:n.[c.1948_*2del;Arg650GlyfsTer?]
XR_001755695.1:n.3079_3092del (PHEX)
NM_000444.6:c.2239_*2del (PHEX) MANE Select	NP_000435.3:n.[c.2239_*2del;Arg747GlyfsTer?]
NM_001282754.2:c.*74_*87del (PHEX)	NP_001269683.1:n.*74_*87del